Polyhydramnion and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; ... ; Hilhorst-Hofstee, Y. (2016)

Article / Letter to editor

A primigravid woman with polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate was born in a poor condition, with increased serum lactate and pyruvate levels. Whole exome sequencing detected FBXL4 gene mutations causing recessive mitochondrial myopathy.

• All authors: Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; Gottschalk, R.W.H.; Steggerda, S.J.; Peeters-Scholte, C.M.P.C.D.; Haak, M.C.; Hilhorst-Hofstee, Y.
• Date: 2016
• Journal: Clinical Case Reports
• DOI: doi:10.1002/ccr3.511